Canonical Allele Identifier: CA1329210246

Gene: DES

Linked Data

• dbSNP Id: rs1954388450

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219419191_219419193dup , CM000664.2:g.219419191_219419193dup	GRCh38
NC_000002.11:g.220283913_220283915dup , CM000664.1:g.220283913_220283915dup	GRCh37
NC_000002.10:g.219992157_219992159dup	NCBI36
NG_008043.1:g.5815_5817dup , LRG_380:g.5815_5817dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.578+151_578+153dup MANE Select	ENSP00000363071.3:n.578+151_578+153dup
ENST00000373960.3:c.578+151_578+153dup	ENSP00000363071.3:n.578+151_578+153dup
NM_001927.3:c.578+151_578+153dup , LRG_380t1:c.578+151_578+153dup	NP_001918.3:n.578+151_578+153dup
NM_001927.4:c.578+151_578+153dup MANE Select	NP_001918.3:n.578+151_578+153dup
NM_001382708.1:c.578+151_578+153dup	NP_001369637.1:n.578+151_578+153dup
NM_001382709.1:c.578+151_578+153dup	NP_001369638.1:n.578+151_578+153dup
NM_001382710.1:c.578+151_578+153dup	NP_001369639.1:n.578+151_578+153dup
NM_001382711.1:c.578+151_578+153dup	NP_001369640.1:n.578+151_578+153dup
NM_001382712.1:c.578+151_578+153dup	NP_001369641.1:n.578+151_578+153dup
NM_001382713.1:c.495+234_495+236dup	NP_001369642.1:n.495+234_495+236dup